Article
Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2013
Rosset C, Vieira I A, Sinigaglia M, Gorziza R P, Salzano F M, Bandinelli E
Abstract excerpt
A total of 76 unrelated male patients with mild (n = 55) or moderate (n = 21) haemophilia A living in the southern Brazilian state of Rio Grande do Sul were studied by direct sequencing of all F8 26 exons, the 5' UTR and 3' UTR, intron-exon junctions and the promoter region. When no mutation was found, a multiplex ligation-dependent probe amplification analysis was performed. We identified the disease-causing...
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